Compound heterozygosity in the glutaryl-CoA dehydrogenase gene with R227P mutation in one allele is associated with no or very low free glutarate excretion

E. Christensen; A. Ribes; C. Busquets; M. Pineda; M. Duran; B.T. Poll-The; C.R. Greenberg; H. Leffers; M. Schwartz

Compound heterozygosity in the glutaryl-CoA dehydrogenase gene with R227P mutation in one allele is associated with no or very low free glutarate excretion

E. Christensen, A. Ribes, C. Busquets, M. Pineda, M. Duran, B.T. Poll-The, C.R. Greenberg, H. Leffers, M. Schwartz

Utrecht University

Research output: Contribution to journal › Article › Academic › peer-review

Original language	Undefined/Unknown
Pages (from-to)	383-386
Number of pages	4
Journal	Journal of Inherited Metabolic Disease
Volume	20
Publication status	Published - 1997

Keywords

Econometric and Statistical Methods: General
Genetics
Geneeskunde(GENK)
Algemeen onderzoek

Cite this

@article{5077d61110a7467ebe425c168c18c3af,

title = "Compound heterozygosity in the glutaryl-CoA dehydrogenase gene with R227P mutation in one allele is associated with no or very low free glutarate excretion",

keywords = "Econometric and Statistical Methods: General, Genetics, Geneeskunde(GENK), Algemeen onderzoek",

author = "E. Christensen and A. Ribes and C. Busquets and M. Pineda and M. Duran and B.T. Poll-The and C.R. Greenberg and H. Leffers and M. Schwartz",

year = "1997",

language = "Undefined/Unknown",

volume = "20",

pages = "383--386",

journal = "Journal of Inherited Metabolic Disease",

issn = "0141-8955",

publisher = "Springer",

}

TY - JOUR

T1 - Compound heterozygosity in the glutaryl-CoA dehydrogenase gene with R227P mutation in one allele is associated with no or very low free glutarate excretion

AU - Christensen, E.

AU - Ribes, A.

AU - Busquets, C.

AU - Pineda, M.

AU - Duran, M.

AU - Poll-The, B.T.

AU - Greenberg, C.R.

AU - Leffers, H.

AU - Schwartz, M.

PY - 1997

Y1 - 1997

KW - Econometric and Statistical Methods: General

KW - Genetics

KW - Geneeskunde(GENK)

KW - Algemeen onderzoek

M3 - Article

SN - 0141-8955

VL - 20

SP - 383

EP - 386

JO - Journal of Inherited Metabolic Disease

JF - Journal of Inherited Metabolic Disease

ER -